Pesquisa | Portal de Pesquisa da BVS

1.

Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.

Cipriani, Valentina; Tierney, Anna; Griffiths, John R; Zuber, Verena; Sergouniotis, Panagiotis I; Yates, John R W; Moore, Anthony T; Bishop, Paul N; Clark, Simon J; Unwin, Richard D.

Am J Hum Genet ; 108(8): 1385-1400, 2021 08 05.

Artigo em Inglês | MEDLINE | ID: mdl-34260948

2.

Long-term cognitive outcomes in tuberous sclerosis complex.

Tye, Charlotte; Mcewen, Fiona S; Liang, Holan; Underwood, Lisa; Woodhouse, Emma; Barker, Edward D; Sheerin, Fintan; Yates, John R W; Bolton, Patrick F.

Dev Med Child Neurol ; 62(3): 322-329, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31538337

3.

Analysis of copy number variation at DMBT1 and age-related macular degeneration.

Polley, Shamik; Cipriani, Valentina; Khan, Jane C; Shahid, Humma; Moore, Anthony T; Yates, John R W; Hollox, Edward J.

BMC Med Genet ; 17(1): 44, 2016 07 15.

Artigo em Inglês | MEDLINE | ID: mdl-27416785

4.

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.

Ansari, Morad; McKeigue, Paul M; Skerka, Christine; Hayward, Caroline; Rudan, Igor; Vitart, Veronique; Polasek, Ozren; Armbrecht, Ana-Maria; Yates, John R W; Vatavuk, Zoran; Bencic, Goran; Kolcic, Ivana; Oostra, Ben A; Van Duijn, Cornelia M; Campbell, Susan; Stanton, Chloe M; Huffman, Jennifer; Shu, Xinhua; Khan, Jane C; Shahid, Humma; Harding, Simon P; Bishop, Paul N; Deary, Ian J; Moore, Anthony T; Dhillon, Baljean; Rudan, Pavao; Zipfel, Peter F; Sim, Robert B; Hastie, Nicholas D; Campbell, Harry; Wright, Alan F.

Hum Mol Genet ; 22(23): 4857-69, 2013 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-23873044

5.

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

Cipriani, Valentina; Leung, Hin-Tak; Plagnol, Vincent; Bunce, Catey; Khan, Jane C; Shahid, Humma; Moore, Anthony T; Harding, Simon P; Bishop, Paul N; Hayward, Caroline; Campbell, Susan; Armbrecht, Ana Maria; Dhillon, Baljean; Deary, Ian J; Campbell, Harry; Dunlop, Malcolm; Dominiczak, Anna F; Mann, Samantha S; Jenkins, Sharon A; Webster, Andrew R; Bird, Alan C; Lathrop, Mark; Zelenika, Diana; Souied, Eric H; Sahel, José-Alain; Léveillard, Thierry; Cree, Angela J; Gibson, Jane; Ennis, Sarah; Lotery, Andrew J; Wright, Alan F; Clayton, David G; Yates, John R W.

Hum Mol Genet ; 21(18): 4138-50, 2012 Sep 15.

Artigo em Inglês | MEDLINE | ID: mdl-22694956

6.

Intellectual development before and after the onset of infantile spasms: a controlled prospective longitudinal study in tuberous sclerosis.

Humphrey, Ayla; MacLean, Cathy; Ploubidis, George B; Granader, Yael; Clifford, Michelle; Haslop, Maisy; Neville, Brian G R; Yates, John R W; Bolton, Patrick F.

Epilepsia ; 55(1): 108-16, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24417555

7.

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Meyer, Esther; Lim, Derek; Pasha, Shanaz; Tee, Louise J; Rahman, Fatimah; Yates, John R W; Woods, C Geoffrey; Reik, Wolf; Maher, Eamonn R.

PLoS Genet ; 5(3): e1000423, 2009 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19300480

8.

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

McKay, Gareth J; Patterson, Chris C; Chakravarthy, Usha; Dasari, Shilpa; Klaver, Caroline C; Vingerling, Johannes R; Ho, Lintje; de Jong, Paulus T V M; Fletcher, Astrid E; Young, Ian S; Seland, Johan H; Rahu, Mati; Soubrane, Gisele; Tomazzoli, Laura; Topouzis, Fotis; Vioque, Jesus; Hingorani, Aroon D; Sofat, Reecha; Dean, Michael; Sawitzke, Julie; Seddon, Johanna M; Peter, Inga; Webster, Andrew R; Moore, Anthony T; Yates, John R W; Cipriani, Valentina; Fritsche, Lars G; Weber, Bernhard H F; Keilhauer, Claudia N; Lotery, Andrew J; Ennis, Sarah; Klein, Michael L; Francis, Peter J; Stambolian, Dwight; Orlin, Anton; Gorin, Michael B; Weeks, Daniel E; Kuo, Chia-Ling; Swaroop, Anand; Othman, Mohammad; Kanda, Atsuhiro; Chen, Wei; Abecasis, Goncalo R; Wright, Alan F; Hayward, Caroline; Baird, Paul N; Guymer, Robyn H; Attia, John; Thakkinstian, Ammarin; Silvestri, Giuliana.

Hum Mutat ; 32(12): 1407-16, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21882290

9.

Complement C3 variant and the risk of age-related macular degeneration.

Yates, John R W; Sepp, Tiina; Matharu, Baljinder K; Khan, Jane C; Thurlby, Deborah A; Shahid, Humma; Clayton, David G; Hayward, Caroline; Morgan, Joanne; Wright, Alan F; Armbrecht, Ana Maria; Dhillon, Baljean; Deary, Ian J; Redmond, Elizabeth; Bird, Alan C; Moore, Anthony T.

N Engl J Med ; 357(6): 553-61, 2007 Aug 09.

Artigo em Inglês | MEDLINE | ID: mdl-17634448

10.

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.

Cipriani, Valentina; Lorés-Motta, Laura; He, Fan; Fathalla, Dina; Tilakaratna, Viranga; McHarg, Selina; Bayatti, Nadhim; Acar, Ilhan E; Hoyng, Carel B; Fauser, Sascha; Moore, Anthony T; Yates, John R W; de Jong, Eiko K; Morgan, B Paul; den Hollander, Anneke I; Bishop, Paul N; Clark, Simon J.

Nat Commun ; 11(1): 778, 2020 02 07.

Artigo em Inglês | MEDLINE | ID: mdl-32034129

11.

The Early Childhood Epilepsy Severity Scale (E-Chess).

Humphrey, Ayla; Ploubidis, George B; Yates, John R W; Steinberg, Tami; Bolton, Patrick F.

Epilepsy Res ; 79(2-3): 139-45, 2008 May.

Artigo em Inglês | MEDLINE | ID: mdl-18387786

12.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

Tye, Charlotte; Thomas, Laura E; Sampson, Julian R; Lewis, Julia; O'Callaghan, Finbar; Yates, John R W; Bolton, Patrick F.

Epilepsia Open ; 3(2): 276-280, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-29881807

13.

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

Cipriani, Valentina; Hogg, Ruth E; Sofat, Reecha; Moore, Anthony T; Webster, Andrew R; Yates, John R W; Fletcher, Astrid E.

JAMA Ophthalmol ; 135(9): 909-916, 2017 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-28750115

14.

Tuberous sclerosis.

Yates, John R W.

Eur J Hum Genet ; 14(10): 1065-73, 2006 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-16868562

15.

Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers.

Sepp, Tiina; Khan, Jane C; Thurlby, Deborah A; Shahid, Humma; Clayton, David G; Moore, Anthony T; Bird, Alan C; Yates, John R W.

Invest Ophthalmol Vis Sci ; 47(2): 536-40, 2006 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-16431947

16.

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Blyth, Moira; Raponi, Michela; Treacy, Rebecca; Raymond, F Lucy; Yates, John R W; Baralle, Diana.

J Neurol Neurosurg Psychiatry ; 81(3): 350-2, 2010 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-20185476

17.

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.

Zhan, Xiaowei; Larson, David E; Wang, Chaolong; Koboldt, Daniel C; Sergeev, Yuri V; Fulton, Robert S; Fulton, Lucinda L; Fronick, Catrina C; Branham, Kari E; Bragg-Gresham, Jennifer; Jun, Goo; Hu, Youna; Kang, Hyun Min; Liu, Dajiang; Othman, Mohammad; Brooks, Matthew; Ratnapriya, Rinki; Boleda, Alexis; Grassmann, Felix; von Strachwitz, Claudia; Olson, Lana M; Buitendijk, Gabriëlle H S; Hofman, Albert; van Duijn, Cornelia M; Cipriani, Valentina; Moore, Anthony T; Shahid, Humma; Jiang, Yingda; Conley, Yvette P; Morgan, Denise J; Kim, Ivana K; Johnson, Matthew P; Cantsilieris, Stuart; Richardson, Andrea J; Guymer, Robyn H; Luo, Hongrong; Ouyang, Hong; Licht, Christoph; Pluthero, Fred G; Zhang, Mindy M; Zhang, Kang; Baird, Paul N; Blangero, John; Klein, Michael L; Farrer, Lindsay A; DeAngelis, Margaret M; Weeks, Daniel E; Gorin, Michael B; Yates, John R W; Klaver, Caroline C W.

Nat Genet ; 45(11): 1375-9, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-24036949

18.

Age-related macular degeneration: the importance of family history as a risk factor.

Shahid, Humma; Khan, Jane C; Cipriani, Valentina; Sepp, Tiina; Matharu, Baljinder K; Bunce, Catey; Harding, Simon P; Clayton, David G; Moore, Anthony T; Yates, John R W.

Br J Ophthalmol ; 96(3): 427-31, 2012 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-21865200

19.

Genetic variation in complement regulators and susceptibility to age-related macular degeneration.

Cipriani, Valentina; Matharu, Baljinder K; Khan, Jane C; Shahid, Humma; Stanton, Chloe M; Hayward, Caroline; Wright, Alan F; Bunce, Catey; Clayton, David G; Moore, Anthony T; Yates, John R W.

Immunobiology ; 217(2): 158-61, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22024702

20.

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Sofat, Reecha; Casas, Juan P; Webster, Andrew R; Bird, Alan C; Mann, Samantha S; Yates, John R W; Moore, Anthony T; Sepp, Tiina; Cipriani, Valentina; Bunce, Catey; Khan, Jane C; Shahid, Humma; Swaroop, Anand; Abecasis, Gonçalo; Branham, Kari E H; Zareparsi, Sepideh; Bergen, Arthur A; Klaver, Caroline C W; Baas, Dominique C; Zhang, Kang; Chen, Yuhong; Gibbs, Daniel; Weber, Bernhard H F; Keilhauer, Claudia N; Fritsche, Lars G; Lotery, Andrew; Cree, Angela J; Griffiths, Helen L; Bhattacharya, Shomi S; Chen, Li L; Jenkins, Sharon A; Peto, Tunde; Lathrop, Mark; Leveillard, Thierry; Gorin, Michael B; Weeks, Daniel E; Ortube, Maria Carolina; Ferrell, Robert E; Jakobsdottir, Johanna; Conley, Yvette P; Rahu, Mati; Seland, Johan H; Soubrane, Gisele; Topouzis, Fotis; Vioque, Jesus; Tomazzoli, Laura; Young, Ian; Whittaker, John; Chakravarthy, Usha; de Jong, Paulus T V M.

Int J Epidemiol ; 41(1): 250-62, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22253316

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